@article {Som:2017:2637-8329:309,
title = "The Current Embryology of the Orbit",
journal = "Neurographics",
parent_itemid = "infobike://asnr/ng",
publishercode ="asnr",
year = "2017",
volume = "7",
number = "4",
publication date ="2017-07-01T00:00:00",
pages = "309-333",
itemtype = "ARTICLE",
issn = "2637-8329",
eissn = "2637-8329",
url = "https://asnr.publisher.ingentaconnect.com/content/asnr/ng/2017/00000007/00000004/art00008",
doi = "doi:10.3174/ng.9170209",
keyword = "ND = Norrie disease, CRYAB = alpha-crystallin B chain protein CRX, MITF = microphthalmia-associated transcription factor, RX = retinal and anterior neural fold homeobox gene, RALDH = retinal dehydrogenase gene, FGF = fibroblastic growth factor, CHST = carbohydrate sulfotransferase 6 enzyme, AMD = age-related macular degeneration, LIM = lens intrinsic membrane protein, HES = hairy and enhancer of split-1 bHLH transcription factor suppressor, SOH = cysteine sulfenic acid functions in redox regulation, DAN = deadenylating nuclease, a negative regulator of Nodal signaling, VEGF = vascular endothelial growth factor, TGFBI = transforming growth factor β induced, VAX = homeodomain proteins that control neuroepithelial segregation, LMX1B = LIM homeobox transcription factor 1β, FOXE3 = forkhead box E3 gene this is a part of the FOX gene family, PHPV = persistent hyperplastic primary vitreous, CHX = paired-type homeodomain protein, TULPL = a member of the tubby gene family, LCD = lattice dystrophy, follistatin = also known as activin-binding protein, functions in the binding and bioneutralization of members of the transforming growth factor β superfamily, KRT = KRT family of genes provide instructions for making proteins keratins, TBX = T-box protein, a transcription factor, SHH = sonic hedgehog, NOGGIN = a BMP antagonist involved in many forms of embryonic development, MT-ND = mitochondrial DNA mutation site, HSF = heat shock transcription factor, EGFR = signaling pathway, GCD = granular dystrophy, BF = boron fluoride, a triggering protein of the alternative pathway of complement activation, NOTCH = a transmembrane receptor for Delta and Serrate, mediating cell‐cell interactions, MAF = transcription factor Maf also known as proto-oncogene c-Maf, GH = glycoside hydrolase, a family of proteins, SOX = Sry-related homeobox gene, TLL = tubulin tyrosine ligase, EFTF = eye field transcription factor, CRX = cone-rod homeobox gene, XL-FEVR = X-linked familial exudative vitreoretinopathy, ROP = retinopathy of prematurity, LHX = a homeobox gene that functions as a transcriptional regulator, SIX = the Six family genes function as transcription factors, CYP1B1 = cytochrome P450 Family 1 Subfamily B Member 1 the CYP1B1 gene provides instructions for the cytochrome P450 superfamily of enzymes, FERM = domain is a widespread protein module involved in localizing proteins to the plasma membrane, STS = sequence-tagged site, RA = retinoic acid, HESX = mutations in this homeobox gene Hesx1 are associated with septo-optic dysplasia in humans, PITX3 = pituitary homeobox 3 transcription factor, fibrillin = a large protein that is transported outside the cell and forms the microfilaments of the extracellular matrix, MIS1 = gene encodes mitochondrial C (1)-tetrahydrofolate synthase, GATA30F04 = a complement regulatory gene locus which can predispose people to degenerative myopia, decorin = a proteoglycan, HF1 = a gene factor which encodes a major inhibitor of the alternative complement pathway, and it is associated with the risk for age-related macular degeneration, RAX = retina and anterior neural fold homeobox gene, LCA = Leber congenital amaurosis, CHORDIN = a bone morphogenetic protein antagonist, ANG = angiopoietin, AIPL1 = aryl hydrocarbon receptor interacting protein-like 1, WNT = Wingless family of secreted signaling molecules, NDP = Norrie disease pseudogliomas gene, NYS1 = nystagmus 1 gene encodes for X-linked idiopathic congenital nystagmus, RPE65 = retinal pigment epithelium-specific protein 65kDa, EYA= eyes absent homolog, a transcription factor, FRMD = FERM domain-containing protein, GUCY2D = guanylate cyclase 2D, a membrane (retina) specific gene, gelsolin = actin-binding protein that is a key regulator of actin filament assembly and disassembly, TGF = transforming growth factor, NYS = nystagmus, CX = lens specific connexins, mtDNA = mitochondrial DNA, CYP4V2 = the CYP4V2 gene provides instructions for the cytochrome P450 superfamily of enzymes, CRB = Crumbs family member 1 for photoreceptor morphogenesis, RPE = retinal pigment epithelium-specific protein, BMP = bone morphogenic protein, PIP5K3 = Arabidopsis thaliana gene encodes PIP5K3 1-phosphatidylinositol-4-phosphate 5-kinase, PAX = paired box protein, D1S = a short tandem repeat marker, OTX = a homeobox protein, FOX = forkhead box transcription factor, CNG = cone cell cyclic nucleotide-gated ion channel, PROX1 = prospero-related homeobox-1, RPGRIP1 = ribosomal protein gene, ET = endothelin, a secreted signaling peptide, MIP = major intrinsic protein encodes lens fiber major intrinsic protein",
author = "Som, P.M.",
abstract = "The eye is truly an extension of the brain and the end organ of the visual pathway. An understanding of how the eye develops and then how the extraocular structures arise allows not only a better understanding of their anatomy but also provides insight into the congenital problems that
may arise. The development of the orbit is the result of complex multifactorial molecular pathways that are just beginning to be better understood, and this understanding is primarily based on animal models. This review takes the reader step by step through this embryology, with numerous figures
to help the reader better understand the text. A section is also included that mentions some of the more common gene-related orbital abnormalities.Learning Objective: The reader will understand the embryology of the orbit and how this relates to the developmental variations that occur.",
}